Variant report

Variant	rs10427360
Chromosome Location	chr2:9781094-9781095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9774003..9777519-chr2:9779253..9781345,3	MCF-7	breast:
2	chr2:9780247..9783706-chr2:9899815..9903353,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10495569	0.92[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs12620485	0.97[ASN][1000 genomes]
rs1806668	0.92[ASN][1000 genomes]
rs1976902	0.88[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.82[ASN][1000 genomes]
rs2091210	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs3762535	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4145375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4668626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669402	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4669403	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4669404	0.82[ASN][1000 genomes]
rs56068986	0.97[ASN][1000 genomes]
rs6432026	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432027	0.92[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs6715748	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6732745	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs73913149	0.96[ASN][1000 genomes]
rs73913150	0.89[ASN][1000 genomes]
rs73913152	0.89[ASN][1000 genomes]
rs7567578	0.97[ASN][1000 genomes]
rs884427	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv518363	chr2:9777229-9788315	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10427360	IAH1	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9772200-9781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:9775000-9782800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:9776400-9782000	Enhancers	HMEC	breast
4	chr2:9776600-9781200	Enhancers	NHDF-Ad	bronchial
5	chr2:9778600-9782800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:9778800-9783800	Weak transcription	Esophagus	oesophagus
7	chr2:9778800-9783800	Weak transcription	Pancreas	Pancrea
8	chr2:9778800-9784000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:9778800-9788400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:9779000-9783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:9779400-9782600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:9779400-9784800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:9779400-9786400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:9779600-9789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:9779800-9783400	Enhancers	Brain Substantia Nigra	brain
16	chr2:9779800-9784400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:9779800-9784400	Weak transcription	Fetal Intestine Small	intestine
18	chr2:9780000-9786400	Weak transcription	HSMMtube	muscle
19	chr2:9780200-9782800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:9780200-9782800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:9780200-9786400	Weak transcription	Lung	lung
22	chr2:9780200-9786400	Weak transcription	HSMM	muscle
23	chr2:9780400-9781200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:9780400-9782800	Weak transcription	Placenta	Placenta
25	chr2:9780400-9783200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:9780400-9783800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:9780400-9785200	Weak transcription	Fetal Lung	lung
28	chr2:9780600-9781200	Bivalent Enhancer	HepG2	liver
29	chr2:9780600-9782600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:9780800-9781200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr2:9780800-9788000	Weak transcription	Fetal Heart	heart
32	chr2:9781000-9781800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:9781000-9781800	Weak transcription	A549	lung
34	chr2:9781000-9782200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:9781000-9782200	Weak transcription	K562	blood
36	chr2:9781000-9782400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:9781000-9782600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:9781000-9782800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:9781000-9783800	Weak transcription	NHEK	skin
40	chr2:9781000-9784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:9781000-9785400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:9781000-9785400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:9781000-9786400	Weak transcription	Ovary	ovary

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